Abstract：
:Partner and localizer of BRCA2 (PALB2), plays an important functional role in DNA damage repair. Recent studies indicate that germline mutations in PALB2 predispose individuals to a high risk of developing familial breast cancer. Therefore, comprehensive identification of PALB2 germline mutations is potentially important for understanding their roles in tumorigenesis and for testing their potential utility as clinical targets. Most of the previous studies of PALB2 have focused on familial breast cancer cases with normal/wild-type BRCA1 and BRCA2 (BRCAx). We hypothesize that PALB2 genetic mutations also exist in individuals with BRCA mutations (BRCA+). To test this hypothesis, PALB2 germline mutations were screened in 107 exome data sets collected from familial breast cancer families who were either BRCA1+ or BRCAx. Two novel heterozygous mutations predicted to alter the function of PALB2 were identified (c.2014G>C, p.E672Q and c.2993G>A, p.G998E). Notably, both of these mutations co-existed in BRCA1+ and BRCA1x families. These studies show that mutations in PALB2 can occur independent of the status of BRCA1 mutations, and they highlight the importance to include BRCA1+ families in PALB2 mutation screens.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Downs B,Kim YC,Xiao F,Snyder C,Chen P,Fleissner EA,Becirovic D,Wen H,Sherman S,Cowan KH,Lynch HT,Wang SMdoi
10.1007/s10549-015-3358-7subject
Has Abstractpub_date
2015-05-01 00:00:00pages
219-24issue
1eissn
0167-6806issn
1573-7217journal_volume
151pub_type
杂志文章abstract：UNLABELLED:Taxanes and anthracyclines improve the outcome of early breast cancer, although the benefit is limited to a small proportion of patients and are toxic. We prospectively looked for predictors of response to these drugs. EXPERIMENTAL DESIGN:Four cycles of doxorubicin (75 mg/m²) or docetaxel (100 mg/m²) were c...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1007/s10549-011-1461-y
更新日期：2011-07-01 00:00:00
abstract：BACKGROUND:Videotaped education materials to teach breast self-examination (BSE) are used worldwide. However, evaluation of videotaped BSE instructions is lacking. METHODS:Premenopausal women (mean age 33.4+/-11.2 years) without history of breast cancer were approached to participate in this experimental study and ran...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1023/a:1015264103561
更新日期：2002-05-01 00:00:00
abstract：:Interleukin-6 (IL-6) and interleukin-11 (IL-11) are frequently produced by breast cancer cells. These interleukins promote osteoclast formation and may mediate osteolysis at the site of breast cancer bone metastases. Transforming growth factor-beta (TGF-beta), tumor necrosis factor-alpha (TNF-alpha) and interleukin-1b...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1024443303436
更新日期：2003-07-01 00:00:00
abstract：BACKGROUND:Paget's disease of the nipple is a rare form of breast cancer characterised by the presence of intraepidermal tumour cells. It is often associated with ductal carcinoma in situ (DCIS) and/or invasive cancer in the breast parenchyma. We have studied the presentation and symptoms of Paget's disease, local cont...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-007-9783-5
更新日期：2008-09-01 00:00:00
abstract：PURPOSE:To investigate whether treatment (surgery, radiation therapy, and endocrine therapy) contributes to racial disparities in outcomes of ductal carcinoma in situ (DCIS). PATIENTS AND METHODS:The analysis included 8184 non-Hispanic White and 954 non-Hispanic Black women diagnosed with DCIS between 1996 and 2011 an...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-016-4030-6
更新日期：2016-12-01 00:00:00
abstract：:We have qualitatively evaluated the retention of the fluorescent dye rhodamine 123 by malignant or non-malignant breast epithelial cells in passively-infused fresh surgical specimens. Our findings demonstrate a microscopically-visible increase in the ability of primary and metastatic tumor cells to retain the dye, as ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01975444
更新日期：1991-03-01 00:00:00
abstract：:The relative amounts of the precursor (52 kDa) and processed (31,27 kDa) forms of cathepsin D have been analyzed by Western blotting in biopsied breast tissue cytosols from 134 lesions from invasive breast cancer patients, 24 lesions from patients with ductal carcinoma in situ (DCIS), 227 lesions from benign breast di...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1006394401199
更新日期：2000-03-01 00:00:00
abstract：:Management of localized breast cancer now commonly involves a breast-sparing approach combined with systemic adjuvant therapy resulting in improved cosmetic results and patient survival. Reducing dietary fat intake represents a conceptually new approach to further improve outcome of patients with resected breast cance...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/BF01834637
更新日期：1992-01-01 00:00:00
abstract：:In a series of 205 node-negative breast cancers (NNBC), we determined staining by the novel antibody Ki-S1, a marker of tumor cell proliferation, in order to test its association with other prognostic variables and its prognostic significance. Ki-S1 was determined in routinely formalin-fixed paraffin-embedded tumor sa...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806494
更新日期：1996-01-01 00:00:00
abstract：:The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil, we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-006-9378-6
更新日期：2007-07-01 00:00:00
abstract：PURPOSE:Aberrant DNA methylation occurs frequently in breast carcinogenesis. Tools for translational epigenetic studies of breast cancer involving formalin-fixed paraffin-embedded (FFPE) human tissues have now been developed. Few studies have measured genome-wide methylation in DNA derived from paraffin-embedded tumour...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-016-3971-0
更新日期：2016-11-01 00:00:00
abstract：PURPOSE:The objective of this study is to understand an impact of financial burden on the adjuvant hormonal therapy (AHT) adherence and persistence for insured women aged 18-64 with early breast cancer in Texas. METHODS:We conducted a retrospective cohort study using claims data for population insured by Blue Cross Bl...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-018-4704-3
更新日期：2018-06-01 00:00:00
abstract：:Oestrogen receptor (ER) negative breast cancers are more likely to achieve a pathological complete response (pCR) to neoadjuvant chemotherapy compared to those with ER positive tumours. ER positive tumours exhibit low proliferation and ER negative cancers high proliferation. The aim of this study was to determine to w...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-009-0329-x
更新日期：2010-01-01 00:00:00
abstract：:The complexity of breast cancer biology makes it challenging to analyze large datasets of clinicopathologic and molecular attributes, toward identifying the key prognostic features and producing systems capable of predicting which patients are likely to relapse. We applied machine-learning techniques to analyze a set ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-009-0557-0
更新日期：2010-06-01 00:00:00
abstract：:Resistance to tamoxifen is a major clinical challenge in the treatment of breast cancer; however, it is still unclear which signaling pathways are the major drivers of tamoxifen-resistant growth. To characterize resistance mechanisms, we have generated different tamoxifen-resistant breast cancer cell lines from MCF-7....
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2485-2
更新日期：2013-05-01 00:00:00
abstract：:The pp32 gene family consists of at least three closely related members, pp32, pp32r1 and pp32r2. In spite of a high degree of identity at the nucleotide level, pp32 functionally behaves as a tumor suppressor where as pp32r1 and pp32r2 are pro-oncogenic. The purpose of this pilot study was to determine pp32-related ex...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1017919507109
更新日期：2001-07-01 00:00:00
abstract：BACKGROUND:The objective was to determine the additional value of pathologic examination using three-level sectioning and immunocytokeratin (ICK) staining of sentinel lymph node (SN) biopsies in cT1-2N0M0 breast carcinoma patients regarding lymph node staging and eligibility of systemic therapy taking primary tumor cha...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-006-9434-2
更新日期：2007-09-01 00:00:00
abstract：:Breast cancer is the second leading cause of cancer death in women in the United States. Metastasis accounts for the death of ~90 % of these patients, yet the mechanisms underlying this event remain poorly defined. WAVE3 belongs to the WASP/WAVE family of actin-binding proteins that play essential roles in regulating ...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-013-2753-1
更新日期：2013-11-01 00:00:00
abstract：:Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation (BRCA1/BRCA2), and if so, to opt for frequent surveillance and/or prophylactic surgery (bilateral mastectomy and/or oophorectomy). Here, a follow-up is described for 63 healthy wo...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1015269620265
更新日期：2002-05-01 00:00:00
abstract：:Forty-one women with non-metastatic but locally advanced breast cancer were treated by modified radical or radical mastectomy, and were then randomized to receive one of two adjuvant chemotherapy regimens. Regimen A consisted of 6 months of cyclophosphamide, adriamycin, and fluorouracil (CAF) followed by 6 months of c...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF01806692
更新日期：1987-01-01 00:00:00
abstract：:The Gail model is considered the best available means for estimating risk of breast cancer development, but it has not yet been applied systematically and validated in Turkish female population. This study was designed to evaluate the performance of the Gail model for Turkish female population. Additionally duration o...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1007/s10549-009-0541-8
更新日期：2010-04-01 00:00:00
abstract：:It has long been hypothesized that personality is associated with breast cancer risk and survival. The present population-based prospective cohort study in Japan tested this hypothesis. To investigate the association of personality with breast cancer risk, a total of 15,107 women aged 40-64 years who completed the Eys...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-015-3364-9
更新日期：2015-04-01 00:00:00
abstract：:A review of the current literature on immunohistologic and histochemical methods for the detection of steroid hormone binding sites in breast cancer, reveals that many, but not all of the criteria for establishing hormone-receptor binding interactions have been met. These include tissue specificity, binding between la...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/BF01806746
更新日期：1981-01-01 00:00:00
abstract：PURPOSE:HER2 gene is a member of the epidermal growth factor receptor (EGFR) family. Across different malignancies, aberrations of HER2 gene commonly correspond to gain-of-function alterations leading to increased receptor signaling. METHODS:We have reviewed the literature currently available on HER2 mutations in huma...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,评审
doi：10.1007/s10549-017-4419-x
更新日期：2017-11-01 00:00:00
abstract：:BRCA1 protein is normally expressed in the nuclei of breast epithelial cells and functions as a negative regulator of the cell cycle. Mutations of BRCA1 gene have been associated with familial breast carcinomas. Although somatic mutations have not been demonstrated in sporadic breast carcinomas, loss of nuclear expres...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1013317909431
更新日期：2002-01-01 00:00:00
abstract：:To further clarify risk factors for breast cancer in Japanese women, a self-administered questionnaire was completed by 157 cases with histologically confirmed breast cancer from 1989 to 1993 and by 369 age and residential area matched controls in Gifu, Japan. Conditional logistic regression model was used to assess t...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1023/a:1005745824388
更新日期：1997-03-01 00:00:00
abstract：:Nipple-sparing mastectomy (NSM) provides a cosmetic and psychological benefit for patients, but concerns on nipple involvement (NI) of tumor continue to persist. Several studies have reported factors for predicting NI, but the results were inconsistent and uncomprehensive, making patient selection difficult. The aim o...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10549-015-3385-4
更新日期：2015-06-01 00:00:00
abstract：:Tamoxifen is metabolized into endoxifen, a potent antagonist of the estrogen receptor, in part through cytochrome p450 (CYP) 2D6. Genotypic variation in CYP2D6 affects endoxifen levels, and some have argued that patients who do not efficiently metabolize tamoxifen might wish to consider alternative hormonal treatments...
journal_title：Breast cancer research and treatment
pub_type： 临床试验,杂志文章
doi：10.1007/s10549-013-2700-1
更新日期：2013-10-01 00:00:00
abstract：:PIN1, an isomerase that causes conformational changes in proteins, plays an important role in mammary epithelial cell growth both physiologically and pathologically. Thus, genetic variants in the PIN1 gene may alter protein function and cancer risk. We have previously demonstrated an association between a PIN1 promote...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-009-0682-9
更新日期：2010-07-01 00:00:00
abstract：:Women with diabetes have higher breast cancer incidence and mortality. The purpose of this study was to examine the impact of diabetes on stage at breast cancer diagnosis, as a possible reason for their higher mortality. Using population-based health databases from Ontario, Canada, this retrospective cohort study exam...
journal_title：Breast cancer research and treatment
pub_type： 杂志文章
doi：10.1007/s10549-015-3323-5
更新日期：2015-04-01 00:00:00
